Canonical Allele Identifier: CA372794634

Gene: VLDLR

Linked Data

• gnomAD v4: 9-2645711-T-C
• MyVariant Identifiers: chr9:g.2645711T>C (hg19) ; chr9:g.2645711T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645711T>C , CM000671.2:g.2645711T>C	GRCh38
NC_000009.11:g.2645711T>C , CM000671.1:g.2645711T>C	GRCh37
NC_000009.10:g.2635711T>C	NCBI36
NG_012741.1:g.28919T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.1008T>C
ENST00000382100.8:c.1450T>C MANE Select	ENSP00000371532.2:p.Phe484Leu
ENST00000478776.2:n.895T>C
ENST00000679718.1:n.686T>C
ENST00000679750.1:n.866T>C
ENST00000679851.1:n.1634T>C
ENST00000680021.1:n.1650T>C
ENST00000680043.1:c.1002T>C
ENST00000680219.1:c.1017T>C
ENST00000680243.1:c.*1229T>C	ENSP00000505911.1:n.*1229T>C
ENST00000680296.1:c.876T>C
ENST00000680332.1:n.533T>C
ENST00000680746.1:c.1327T>C	ENSP00000505030.1:p.Phe443Leu
ENST00000680751.1:n.855T>C
ENST00000680891.1:c.*1242T>C	ENSP00000505167.1:n.*1242T>C
ENST00000680975.1:n.835T>C
ENST00000681087.1:n.895T>C
ENST00000681306.1:c.1450T>C	ENSP00000506072.1:p.Phe484Leu
ENST00000681618.1:c.1327T>C	ENSP00000505773.1:p.Phe443Leu
ENST00000681644.1:c.*1122T>C	ENSP00000505180.1:n.*1122T>C
ENST00000681806.1:c.1450T>C	ENSP00000505282.1:p.Phe484Leu
ENST00000681942.1:c.998T>C
ENST00000382099.2:c.1450T>C	ENSP00000371531.2:p.Phe484Leu
ENST00000382100.7:c.1450T>C	ENSP00000371532.2:p.Phe484Leu
NM_001018056.1:c.1450T>C	NP_001018066.1:p.Phe484Leu
NM_003383.3:c.1450T>C	NP_003374.3:p.Phe484Leu
XM_011518029.1:c.1327T>C	XP_011516331.1:p.Phe443Leu
NM_001018056.2:c.1450T>C	NP_001018066.1:p.Phe484Leu
NM_001322225.1:c.1327T>C	NP_001309154.1:p.Phe443Leu
NM_001322226.1:c.1327T>C	NP_001309155.1:p.Phe443Leu
NM_003383.4:c.1450T>C	NP_003374.3:p.Phe484Leu
XR_001746373.2:n.1854T>C
XR_002956805.1:n.1854T>C
NM_003383.5:c.1450T>C MANE Select	NP_003374.3:p.Phe484Leu
NM_001018056.3:c.1450T>C	NP_001018066.1:p.Phe484Leu
NM_001322225.2:c.1327T>C	NP_001309154.1:p.Phe443Leu
NM_001322226.2:c.1327T>C	NP_001309155.1:p.Phe443Leu